FHIR CI-Build

This is the Continuous Integration Build of FHIR (will be incorrect/inconsistent at times).
See the Directory of published versions

Example MolecularDefinition/example-variation-pgx-var-1014 (Turtle)

Clinical Genomics Work GroupMaturity Level: N/AStandards Status: InformativeCompartments: No defined compartments

Raw Turtle (+ also see Turtle/RDF Format Specification)

Example of Variation of Pgx-var-1014

@prefix fhir: <http://hl7.org/fhir/> .
@prefix loinc: <https://loinc.org/rdf/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

<http://hl7.org/fhir/MolecularDefinition/example-variation-pgx-var-1014> a fhir:MolecularDefinition ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "example-variation-pgx-var-1014"] ; # 
  fhir:moleculeType [
     fhir:coding ( [
       fhir:system [ fhir:v "http://hl7.org/fhir/sequence-type"^^xsd:anyURI ] ;
       fhir:code [ fhir:v "dna" ] ;
       fhir:display [ fhir:v "DNA Sequence" ]
     ] )
  ] ; # 
  fhir:location ( [
     fhir:sequenceLocation [
       fhir:sequenceContext [
         fhir:link <http://hl7.org/fhir/MolecularDefinition/example-sequence-nc00001010-url> ;
         fhir:reference [ fhir:v "MolecularDefinition/example-sequence-nc00001010-url" ] ;
         fhir:type [ fhir:v "MolecularDefinition"^^xsd:anyURI ] ;
         fhir:display [ fhir:v "Starting Sequence Resource: Homo sapiens chromosome 10, GRCh37.p13 Primary Assembly, NC_000010.10" ]
       ] ;
       fhir:coordinateInterval [
         fhir:coordinateSystem [
           fhir:system [
             fhir:coding ( [
               a loinc:LA30102-0 ;
               fhir:system [ fhir:v "http://loinc.org"^^xsd:anyURI ] ;
               fhir:code [ fhir:v "LA30102-0" ] ;
               fhir:display [ fhir:v "1-based character counting" ]
             ] ) ;
             fhir:text [ fhir:v "1-based character counting" ]
           ]
         ] ;
         fhir:start [
           a fhir:Quantity ;
           fhir:value [ fhir:v "96535210"^^xsd:decimal ]
         ] ;
         fhir:end [
           a fhir:Quantity ;
           fhir:value [ fhir:v "96535210"^^xsd:decimal ]
         ]
       ]
     ]
  ] ) ; # 
  fhir:representation ( [
     fhir:focus [
       fhir:coding ( [
         fhir:code [ fhir:v "reference-state" ] ;
         fhir:display [ fhir:v "Reference State" ]
       ] )
     ] ;
     fhir:literal [
       fhir:value [ fhir:v "G" ]
     ]
  ] [
     fhir:focus [
       fhir:coding ( [
         fhir:code [ fhir:v "alternative-state" ] ;
         fhir:display [ fhir:v "Alternative State" ]
       ] )
     ] ;
     fhir:literal [
       fhir:value [ fhir:v "G" ]
     ]
  ] ) . # 

<http://hl7.org/fhir/MolecularDefinition/example-sequence-nc00001010-url> a fhir:MolecularDefinition .

# -------------------------------------------------------------------------------------


Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.